Reinicke Trenton, Costantino Christina L, Anderson Danyon J, Tran Jacqueline, Griggs Cornelia
Department of Clinical and Translational Epidemiology, Massachusetts General Hospital, Boston, USA.
Department of Surgery, Massachusetts General Hospital, Boston, USA.
Cureus. 2022 Jan 16;14(1):e21290. doi: 10.7759/cureus.21290. eCollection 2022 Jan.
VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association is a condition defined by having at least three of the following congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. While diagnosing the VACTERL association is rare, the conditions that make up the VACTERL core-component features among other congenital abnormalities are even more unique. We present a case of a 34-week-old premature infant with trisomy 21 in addition to esophageal atresia, tracheoesophageal fistula, laryngeal cleft, vascular ring, Hirschsprung's disease, atrioventricular canal defect, ventricular septal defect, and other related conditions diagnosed at birth. To our knowledge, this case represents the first of its kind in relation to the constellation of anomalies diagnosed in one individual at birth of which may or may not be related to Down syndrome, and the associated interventions necessary to continue postnatal living.
VACTERL（脊柱缺陷、肛门闭锁、心脏缺陷、气管食管瘘、肾脏异常和肢体异常）综合征是一种由以下至少三种先天性畸形定义的病症：脊柱缺陷、肛门闭锁、心脏缺陷、气管食管瘘、肾脏异常和肢体异常。虽然诊断出VACTERL综合征的情况很少见，但构成VACTERL核心组成特征的病症在其他先天性异常中更为独特。我们报告了一例34周大的早产婴儿，除了食管闭锁、气管食管瘘、喉裂、血管环、先天性巨结肠、房室管缺损、室间隔缺损以及出生时诊断出的其他相关病症外，还患有21三体综合征。据我们所知，该病例代表了在一个个体出生时诊断出的一系列异常情况中的首例，这些异常情况可能与唐氏综合征有关，也可能无关，并且还涉及到出生后继续生存所需的相关干预措施。
